Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912492
rs121912492
LAMB2
0.700 GeneticVariation UNIPROT Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 16912710

2006
dbSNP: rs121912492
rs121912492
LAMB2
0.700 GeneticVariation UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484

2004